Catherine A. Schaefer, PhD

Schaefer, Catherine

Kaiser Permanente Division of Research
2000 Broadway
Oakland, CA 94612

(510) 891-3400 (phone)
cathy.schaefer@kp.org
Kaiser Permanente Researcher Profiles

Catherine Schaefer, PhD, joined the Division of Research in 1989. Dr. Schaefer’s primary research interests include the epidemiology of psychiatric and neurologic disorders, genetic epidemiology, and early antecedents of adult chronic disease, focusing especially on bipolar disorder, schizophrenia, and multiple sclerosis.

In collaboration with others at the Division of Research and scientists at UCSF, Dr. Schaefer began and heads the Research Program on Genes, Environment, and Health (RPGEH), a biobank that links biospecimens and genetic data with participant surveys and comprehensive electronic health records on a diverse cohort of 200,000 members of Kaiser Permanente in Northern California. The program serves as the foundation for the Kaiser Permanente Research Bank, which includes members from Kaiser Permanente regions across the country. The RPGEH is a resource for research on the genetic epidemiology and pharmacogenetics of many diseases and conditions.

Current Position(s):

Managing Director of Special Projects

Section Affiliations:

Behavioral Health and Aging

Primary Research Interests:

Epidemiology of psychiatric and neurologic disorders
Early antecedents of adult chronic disease
Genetic epidemiology

Related Website(s):

Research Program on Genes, Environment and Health

Studies

Bipolar Disease and Parkinson's Disease

This study, being done with a parallel effort at UCSF, will focus on how bipolar disease is related to Parkinson's disease. We will look within the KPNC membership data, as well as focusing on a specific KP study population of bipolar disease.
Investigator: Schaefer, Catherine; Van Den Eeden, Stephen
Funder: Michael J. Fox Foundation

Statin Treatment and Incident Alzheimer’s Disease and Related Dementias in a Large, Multi-ethnic Health Plan

The study will assess the effects of statin treatment on risk of Alzheimer's disease and related dementias, controlling for potential confounding and examining potential mediating factors among Kaiser Permanente Northern California members during the years 1996 to 2020. A second aim will examine the role of genetic factors in the association of statin treatment and dementia risk in a cohort of genotyped KPNC members.
Investigator: Schaefer, Catherine
Funder: National Institute on Aging

Genetics at an Extreme: An Efficient Genomic Study of Individuals with Clinically Severe Major Depression Receiving ECT

This study brings together investigators from around the world to carry out a genetics study of severe major depressive disorder (MDD) treated with electroconvulsive therapy (ECT). The National Network of Depression Centers and allied centers in the U.S. will carry out a genetics study that will enroll 25,000 patients receiving ECT for severe MDD. The centers will also carry out a genome-wide association study comparing these 25,000 cases with 50,000 non-depressed and tightly matched previously collected controls. They will also carry out a genome-wide association study of response to ECT in the 10,000 patients with prospective follow-up data. Analysis will consider changes in measures of depression and cognitive function, test for genetic variances associated with these responses, and examine prediction models.
Investigator: Schaefer, Catherine
Funder: National Institute of Mental Health

ICLIC-MS for Enhancing Outcomes Research and Clinical Care in Multiple Sclerosis

The goal of this project is 1) to collect longitudinal measures of cognitive function, quality of life, and physical disability on a multi-ethnic sample of 3,000 individuals with multiple sclerosis (MS), using a web-based interface, Clinical and Longitudinal Information Collection for MS (ICLIC-MS); 2) to use these data in conjunction with already-collected data on genetic and environmental factors that affect risk of MS to better understand factors that influence progression of MS; and 3) to develop a report to provide information to treating neurologists about changes in cognitive function, quality of life, and physical disability that can be used to inform treatment of MS.
Investigator: Schaefer, Catherine
Funder: National Institute of Nursing Research

The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up

The International Bipolar Sequencing Consortium brings together whole-genome and exome sequence data from multiple case-control and family studies of bipolar disorder for the purpose of investigating the genetic architecture of this condition. Data from multiple institutions and studies will be combined and harmonized to examine associations of genetic variation with bipolar disorder. De-identified exome sequence data from 483 individuals with bipolar disorder and 483 matched controls will be provided from the Multi-Ethnic Genome-wide Association Study of Bipolar Disorder at Kaiser Permanente Northern California, which will participate in analyses of the harmonized dataset from all study sites.
Investigator: Schaefer, Catherine
Funder: National Institute of Mental Health

Cognitive Function and Physical Disability in White, Black and Hispanic MS Patients

Cognitive impairment, physical disability and progressive disease are common but understudied clinical outcomes that substantially impact quality of life for individuals with multiple sclerosis (MS). Systematic assessment of cognitive function, disability and progression is neither routinely performed, nor results captured electronically, for most MS patients undergoing medical care. To help address this gap, we have recently developed and validated a new guided, web-based interface (ICLIC-MS) for longitudinal data collection of MS-validated measures for these important outcomes and other symptoms. We will recruit and collect comprehensive data on cognitive function, physical disability and disease progression over three years from a multi-ethnic cohort of 600 individuals with confirmed MS or clinically isolated syndrome (CIS). The study will be nested in the Kaiser Permanente (KP) MS Research Program which is part of the KP Medical Care Program in the Northern California Region.
Investigator: Schaefer, Catherine
Funder: National Multiple Sclerosis Society

Replication of PheWAS for TRPV4 Variant in Kaiser Permanente GERA Cohort

We will use the RPGEH GERA cohort to investigate associations of genetic variation (SNP genotypes) with several related conditions, including congestive heart failure, chronic kidney disease, and possibly related phenotypes. Our first objective will be to replicate findings of association of a specific genetic variant with a number of phenotypes, including congestive heart failure, pulmonary edema, and kidney disease. We will utilize the same phenotype definitions as in the original analysis, based on algorithmic extraction of electronic medical record data. In parallel, we will pursue our second and third objectives, which focus on a more in-depth analysis of the role of genome-wide variation in congestive heart failure and kidney disease. This will involve the development of deep phenotypes for these conditions that utilize extensive characterization of these conditions using KPNC electronic records.
Investigator: Schaefer, Catherine
Funder: GlaxoSmithKline PLC

Genome-Wide Study of Hearing Impairment

More than 25% of individuals over age 65 and 50% of individuals over age 80 suffer from varying levels of age-related hearing impairment (AHRI), and adults are losing hearing at earlier ages than in the past. There is strong evidence that both genetic and environmental factors play a role in AHRI. This is a genome-wide association study that is orders of magnitude larger than previous studies in a cohort of 100,000 individuals nested in the Kaiser Research Program on Genes, Environment, and Health. This project provides an efficient and innovative opportunity to obtain a comprehensive understanding of how these genetic factors impact AHRI, which may help identify individuals at greater risk. Understanding the genetic factors will also lead to better understanding of the underlying biological mechanisms of AHRI, which may improve potential treatments.
Investigator: Schaefer, Catherine
Funder: University of California, San Francisco, Project Grant

BioBank Northern California - Regional

The KP Research Bank aims to recruit 280,000 members (200,000 in the general cohort, 30,000 in the cancer cohort, and 50,000 in the pregnancy cohort) total across all regions, to increase the overall Biobank collection to 500,000 (410,000 in the general cohort, 30,000 in the cancer cohort, and 60,000 in the pregnancy cohort). Members will be consented to provide a biospecimen and complete a survey. Regions will participate in the recruitment and other Research Bank-related efforts, including scientific, strategic and operational.
Investigator: Schaefer, Catherine
Funder: Kaiser Foundation Research Institute

Highlighted Publications

Maternal prepregnant body mass and risk of schizophrenia in adult offspring

Author(s): Schaefer CA; Brown AS; Wyatt RJ; Kline J; Begg MD; Bresnahan MA; Susser ES

Schizophr Bull. 2000;26(2):275-86.

Current Position(s):

Section Affiliations:

Primary Research Interests:

Related Website(s):

Studies

Bipolar Disease and Parkinson's Disease

Statin Treatment and Incident Alzheimer’s Disease and Related Dementias in a Large, Multi-ethnic Health Plan

Genetics at an Extreme: An Efficient Genomic Study of Individuals with Clinically Severe Major Depression Receiving ECT

ICLIC-MS for Enhancing Outcomes Research and Clinical Care in Multiple Sclerosis

The Bipolar Sequencing Consortium for Combined Analyses and Follow-Up

Cognitive Function and Physical Disability in White, Black and Hispanic MS Patients

Replication of PheWAS for TRPV4 Variant in Kaiser Permanente GERA Cohort

Genome-Wide Study of Hearing Impairment

BioBank Northern California - Regional

Highlighted Publications

Maternal prepregnant body mass and risk of schizophrenia in adult offspring

Mortality following conjugal bereavement and the effects of a shared environment

Publications

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans

Case-control study of adverse childhood experiences and multiple sclerosis risk and clinical outcomes

Hereditary Spherocytosis

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations

A large-scale association study detects novel rare variants, risk genes, functional elements, and polygenic architecture of prostate cancer susceptibility

Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk

Meta-analysis of 26,638 Individuals Identifies Two Genetic Loci Associated with Left Ventricular Ejection Fraction

A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

Analysis of putative cis-regulatory elements regulating blood pressure variation

Associations of CYP2C9 and CYP2C19 pharmacogenetic variation with phenytoin-induced cutaneous adverse drug reactions

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

Assessing the clinical impact of CYP2C9 pharmacogenetic variation on phenytoin prescribing practice and patient response in an integrated health system

Maternal cortisol during pregnancy and offspring schizophrenia: Influence of fetal sex and timing of exposure

Multiple Stakeholder Views on Data Sharing in a Biobank in an Integrated Healthcare Delivery System: Implications for Biobank Governance

miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS

Telomere length and socioeconomic status at neighborhood and individual levels among 80,000 adults in the Genetic Epidemiology Research on Adult Health and Aging cohort

The associations of anthropometric, behavioural and sociodemographic factors with circulating concentrations of IGF-I, IGF-II, IGFBP-1, IGFBP-2, and IGFBP-3 in a pooled analysis of 16,024 men from 22 studies

Characterization of Statin Low-Density Lipoprotein Cholesterol Dose-Response Using Electronic Health Records in a Large Population-Based Cohort

A Large Multi-ethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci

Incorporating machine learning approaches to assess putative environmental risk factors for multiple sclerosis

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

A large electronic-health-record-based genome-wide study of serum lipids

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

Genetic risk factors for pediatric-onset multiple sclerosis

The interaction between smoking and HLA genes in multiple sclerosis: replication and refinement

Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study

​Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS

Remote assessment of verbal memory in MS patients using the California Verbal Learning Test

Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

Causal Effect of Genetic Variants Associated With Body Mass Index on Multiple Sclerosis Susceptibility

The Kaiser Permanente Northern California research program on genes, environment, and health (RPGEH) pregnancy cohort; study design, methodology and baseline characteristics.

Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation

A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.

Mendelian randomization shows a causal effect of low vitamin D on multiple sclerosis risk

The Association of Refractive Error with Glaucoma in a Multiethnic Population

Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies

Maternal serum cytokine levels and risk of bipolar disorder

Maternal T. gondii, offspring bipolar disorder and neurocognition

A meta-analysis of individual participant data reveals an association between circulating levels of IGF-I and prostate cancer risk

Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration

Feasibility study for remote assessment of cognitive function in multiple sclerosis

Fetal exposure to maternal stress and risk for schizophrenia spectrum disorders among offspring: Differential influences of fetal sex

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes

A large multi-ethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences

Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response

Perinatal oxytocin increases the risk of offspring bipolar disorder and childhood cognitive impairment

Imputation of the Rare HOXB13 G84E Mutation and Cancer Risk in a Large Population-Based Cohort

Interaction between passive smoking and two HLA genes with regard to multiple sclerosis risk

Estimating genotype error rates from high-coverage next-generation sequence data

Seroprevalence of Aquaporin-4-IgG in a Northern California Population Representative Cohort of Multiple Sclerosis

Obesity during childhood and adolescence increases susceptibility to multiple sclerosis after accounting for established genetic and environmental risk factors

Adverse socioeconomic position during the life course is associated with multiple sclerosis

Smoking and Risk of Multiple Sclerosis; Evidence of Modification by NAT1 Variants

Serological Documentation of Maternal Influenza Exposure and Bipolar Disorder in Adult Offspring

Interaction between adolescent obesity and HLA risk genes in the etiology of multiple sclerosis

Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS